(Q41929157)

14 October 2017

A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation (English)

1 reference

14 October 2017

0 references

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25355454%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Maurizio Elia

6

1 reference

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7 June 2020

Vincenzo Leuzzi

11

1 reference

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7 June 2020

Rossella Parini

3

1 reference

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7 June 2020

Roberta Battini

4

1 reference

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7 June 2020

Massimiliano Leoni

12

1 reference

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7 June 2020

Gert Matthijs

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25355454%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Domenico Garozzo

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25355454%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

author name string

M Carrozzi

2

1 reference

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7 June 2020

D Martinelli

5

1 reference

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7 June 2020

M Spada

7

1 reference

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7 June 2020

F Lilliu

8

1 reference

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7 June 2020

G Ciana

9

1 reference

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7 June 2020

A Burlina

10

1 reference

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7 June 2020

L Sturiale

13

1 reference

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7 June 2020

J Jaeken

15

1 reference

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7 June 2020

M Di Rocco

16

1 reference

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7 June 2020

A Fiumara

18

1 reference

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7 June 2020

publication date

30 October 2014

1 reference

14 October 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25355454%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

volume

262

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25355454%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

page(s)

154-164

1 reference

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7 June 2020

issue

1

1 reference

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https://scigraph.springernature.com/pub.10.1007/s00415-014-7549-7

7 June 2020

exact match

0 references

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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Congenital disorder of glycosylation type Ia (CDG-Ia): phenotypic spectrum of the R141H/F119L genotype

21 January 2018

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Thrombotic complications in patients with PMM2-CDG.

21 January 2018

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Olivopontocerebellar atrophy of neonatal onset and disialotransferrin developmental deficiency syndrome

21 January 2018

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Neurological presentation of a congenital disorder of glycosylation CDG-Ia: implications for diagnosis and genetic counseling.

21 January 2018

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Congenital disorder of glycosylation type Ia: a clinicopathological report of a newborn infant with cerebellar pathology

21 January 2018

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Inherited cerebellar ataxia in childhood: a pattern-recognition approach using brain MRI.

21 January 2018

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Insufficient ER-stress response causes selective mouse cerebellar granule cell degeneration resembling that seen in congenital disorders of glycosylation

21 January 2018

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Glycosylation of {beta}2 subunits regulates GABAA receptor biogenesis and channel gating

21 January 2018

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Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia)

21 January 2018

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Functional significance of PMM2 mutations in mildly affected patients with congenital disorders of glycosylation Ia.

21 January 2018

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Congenital disorder of glycosylation type 1a: three siblings with a mild neurological phenotype

21 January 2018

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Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG): expression analysis of PMM2-CDG mutations

21 January 2018

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Identification of four novel PMM2 mutations in congenital disorders of glycosylation (CDG) Ia French patients

21 January 2018

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Diagnosis of congenital disorders of glycosylation type-I using protein chip technology

21 January 2018

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21 January 2018

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The molecular landscape of phosphomannose mutase deficiency in iberian peninsula: identification of 15 population-specific mutations

21 January 2018

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Congenital disorders of glycosylation: review of their molecular bases, clinical presentations and specific therapies

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12 December 2020

Clinical phenotype correlates to glycoprotein phenotype in a sib pair with CDG-Ia

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12 December 2020

Neurophysiological findings in a case of carbohydrate-deficient glycoprotein (CDG) syndrome type I with phosphomannomutase deficiency

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Scandinavian CDG-Ia patients: genotype/phenotype correlation and geographic origin of founder mutations

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PMM2 mutation spectrum, including 10 novel mutations, in a large CDG type 1A family material with a focus on Scandinavian families

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Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25355454%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

1 reference